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Diseases

Genetic and Rare Diseases Information Center (GARD)

2-methyl-3-hydroxybutyric aciduria


Other Names for this Disease
  • HSD10 deficiency
  • 3H2MBD deficiency
  • 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency
  • Hydroxyacyl-CoA dehydrogenase II deficiency
  • 2M3HBA
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

2-methyl-3-hydroxybutyric aciduria is an inherited disorder in which the body cannot effectively process the amino acid isoleucine. Signs and symptoms of this condition usually develop in infancy or early childhood and include metabolic acidosis, hypoglycemia, hypotonia, seizures, movement problems, retinal degeneration, and hearing loss. Affected males have severe neurodegeneration with loss of developmental milestones, whereas females have mild to moderate developmental delay. 2-methyl-3-hydroxybutyric aciduria is caused by mutations in the HSD17B10 gene; it has an X-linked dominant pattern of inheritance.[1][2]
Last updated: 3/24/2010

References

  1. 17ß-hydroxysteroid dehydrogenase type 10 deficiency. Genetics Home Reference. October 2009; http://ghr.nlm.nih.gov/condition=17betahydroxysteroiddehydrogenasetype10deficiency. Accessed 3/24/2010.
  2. 2M3HBA - 2-Methyl-3-hydroxybutyric aciduria. Newborn Screening Coding and Terminology Guide. December 19, 2008; http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/2M3HBA. Accessed 3/24/2010.
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Basic Information

  • Genetics Home Reference (GHR) contains information on 2-methyl-3-hydroxybutyric aciduria. This website is maintained by the National Library of Medicine.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
Other Names for this Disease
  • HSD10 deficiency
  • 3H2MBD deficiency
  • 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency
  • Hydroxyacyl-CoA dehydrogenase II deficiency
  • 2M3HBA
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.